Rare Disease Institute

The Rare Disease Institute (RDI) is a new initiative aimed at improving collaboration between rare disease stakeholders. The aim is to facilitate faster diagnosis and better care for rare disease patients.  Considering the fact that for 7000 rare diseases there are only 400 approved therapies, change is clearly needed.

The ultimate goal is to speed up the research process and get treatments to patients faster. Moreover, this institute aims to ensure that the right treatment is given to the right patient the first time.

Who is involved?

Collaboration partners include:

• Pharmaceutical companies
• Genetic labs
• Healthcare systems
• Academic systems
• Patient advocacy organizations
• Technology companies.

Some notable collaborators are The United Leukodystrophy Foundation, The Cure GM1 Foundation, Medical College of Wisconsin, Datavant, Blueprint Genetics, Antidote Technologies, and PWNHealth.

Goals include:

• Improving education on the latest innovations (for patients as well as their doctors)
• Empowering pharmaceutical companies in the area of rare disease
• Improving access to the most recent novel developments
• Aiding in the earlier diagnosis of patients who have progressive conditions (and eliminating misdiagnosis)
  

Collaboration resources include:

• Artificial intelligence
• Machine learning
• Natural language processing
• Electronic health records

These partnerships are so important because they bring the patient voice into the conversation of treatment development. Further, by fostering collaboration between pharmaceutical companies, the planning and recruiting for clinical trials as well as the long-term goal of therapy commercialization will be improved.